Resumen

LEON-DOMINGUEZ, Cristina E.; RUILOVA-CASTILLO, María I.  y  SALINAS-HERRERA, Medardo D.. Tetralogy of Fallot and pulmonary valvular agenesis syndrome in 22q11 deletion syndrome. Rev. Colomb. Cardiol. [online]. 2024, vol.31, n.5, pp.318-322.  Epub 28-Nov-2024. ISSN 0120-5633.  https://doi.org/10.24875/rccar.23000032.

The 22q11 deletion syndrome, also called DiGeorge syndrome, has a wide variety of symptoms and signs, the most prevalent being conotruncal cardiac alterations, hypoplastic thymus and hypocalcemia. We present the clinical case of a 15-day-old newborn is reported who at the first minute presented clinical data of respiratory failure, hypotonia and flaccidity, which required the use of invasive mechanical ventilation and hospitalization in the neonatology unit. Based on the clinical manifestations, imaging findings, cytogenetic and molecular analyses, the diagnosis of 22q11 microdeletion syndrome or DiGeorge syndrome is proposed. Being a rare disease, whose clinical presentation represents a diagnostic challenge for the medical team, the multidisciplinary diagnostic approach carried out in this case allowed us to obtain an early diagnosis and guide the necessary therapeutic conduct. It is one of the first reports of cases of 22q11 microdeletion syndrome in Ecuador.

Palabras clave : 22q11 deletion syndrome; Phenotypic abnormalities; Complex congenital heart disease; Cytogenetics.

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